IthaID: 3564
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | Init CD ATG>ATC [Met>Ile] | HGVS Name: | HBA2:c.3G>C |
| Hb Name: | N/A | Protein Info: | N/A |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
CAGACTCAGAGAGAACCCACCAT [G>C] GTGCTGTCTCCTGCCGACAAGACC (Strand: +)
Protein sequence:
IVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Comments: Reported in a Chinese young adult and his father in a heterozygous form. They both had a haematological phenotype of mild α+ thalassemia trait with low-normal limit of MCV and normal Hb A2. RNA analysis showed markedly decreased levels of α-globin mRNA and the presence of a small amount of mutant mRNA.
External Links
No available links
Phenotype
| Hemoglobinopathy Group: | Thalassaemia |
|---|---|
| Hemoglobinopathy Subgroup: | α-thalassaemia |
| Allele Phenotype: | α⁺ |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 33778 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Initiation codon (Translation) |
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Sequence Viewer
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Publications / Origin
- Lei YL, Sui H, Liu YJ, Pan JJ, Liu YH, Lou JW, Molecular and Hematological Characterization of a Novel Translation Initiation Codon Mutation of the α2-Globin Gene (AT>AT or : c.3G>C)., Hemoglobin, 43(0), 241-244, 2019 PubMed
Created on 2020-01-31 13:01:26,
Last reviewed on 2023-07-03 10:09:29 (Show full history)
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